1. ¹Division of Molecular Biology and Genetics, Department of Biomolecular Sciences, Saga University, Saga, Japan
2. ²Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan
3. ³Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
4. ⁴SORST, Japan Science and Technology Agency, Kawaguchi, Japan

Correspondence: Dr H Soejima, Division of Molecular Biology and Genetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, Japan. Tel: +81-952-34-2264; Fax: +81-952-34-2067; E-mail: soejimah@med.saga-u.ac.jp

Received 29 November 2006; Revised 26 June 2007; Accepted 24 July 2007; Published online 15 August 2007.

Abstract

Beckwith–Wiedemann syndrome (BWS) is an imprinting-related human disease. The frequencies of causative alterations such as loss of methylation (LOM) of KvDMR1, hypermethylation of H19-DMR, paternal uniparental disomy, CDKN1C gene mutation, and chromosome abnormality have been described for North American and European patients, but the corresponding frequencies in Japanese patients have not been measured to date. Analysis of 47 Japanese cases of BWS revealed a significantly lower frequency of H19-DMR hypermethylation and a higher frequency of chromosome abnormality than in North American and European patients. These results suggest that susceptibility to epigenetic and genetic alterations differs between the two groups.